Article
Multidisciplinary Sciences
Julia K. Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Eleina England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, Andy Dahl, Carlos A. Aguilar-Salinas, Gil Atzmon, Francisco Barajas-Olmos, Nir Barzilai, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Federico Centeno-Cruz, John C. Chambers, Nathalie Chami, Edmund Chan, Juliana Chan, Ching-Yu Cheng, Yoon Shin Cho, Cecilia Contreras-Cubas, Emilio Cordova, Adolfo Correa, Ralph A. DeFronzo, Ravindranath Duggirala, Josee Dupuis, Ma Eugenia Garay-Sevilla, Humberto Garcia-Ortiz, Christian Gieger, Benjamin Glaser, Clicerio Gonzalez-Villalpando, Ma Elena Gonzalez, Niels Grarup, Leif Groop, Myron Gross, Christopher Haiman, Sohee Han, Craig L. Hanis, Torben Hansen, Nancy L. Heard-Costa, Brian E. Henderson, Juan Manuel Malacara Hernandez, Mi Yeong Hwang, Sergio Islas-Andrade, Marit E. Jorgensen, Hyun Min Kang, Bong-Jo Kim, Young Jin Kim, Heikki A. Koistinen, Jaspal Singh Kooner, Johanna Kuusisto, Soo-Heon Kwak, Markku Laakso, Leslie Lange, Jong-Young Lee, Juyoung Lee, Donna M. Lehman, Allan Linneberg, Jianjun Liu, Ruth J. F. Loos, Valeriya Lyssenko, Ronald C. W. Ma, Angelica Martinez-Hernandez, James B. Meigs, Thomas Meitinger, Elvia Mendoza-Caamal, Karen L. Mohlke, Andrew D. Morris, Alanna C. Morrison, Maggie C. Y. Ng, Peter M. Nilsson, Christopher J. O'Donnell, Lorena Orozco, Colin N. A. Palmer, Kyong Soo Park, Wendy S. Post, Oluf Pedersen, Michael Preuss, Bruce M. Psaty, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Claudia Schurmann, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Timothy D. Spector, Konstantin Strauch, Tim M. Strom, E. Shyong Tai, Claudia H. T. Tam, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Russell P. Tracy, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusie-Luna, Rob M. van Dam, Ramachandran S. Vasan, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, Noel P. Burtt, Noah Zaitlen, Mark I. McCarthy, Michael Boehnke, Toni I. Pollin, Jason Flannick, Josep M. Mercader, Anne O'Donnell-Luria, Samantha Baxter, Jose C. Florez, Daniel G. MacArthur, Miriam S. Udler
Summary: The study used exome sequencing data from 77,184 individuals to generate penetrance estimates for monogenic diseases, with most conditions showing a penetrance average of 60% or lower for variant carriers. The addition of polygenic variation significantly improved biomarker estimation for two monogenic dyslipidemias, indicating the importance of including polygenic factors in risk prediction for monogenic variant carriers.
NATURE COMMUNICATIONS
(2021)
Article
Genetics & Heredity
Malak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, Narjes Saheb Sharif-Askari, Mahmood Y. Hachim, Hamad Alsheikh, Muddathir H. Hamad, Mustafa A. Salih, Fahad A. Bashiri, Khalid Alhasan, Tarek Kashour, Pilar Guatibonza Moreno, Sabine Schroeder, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Hisham Alkhalidi, Dima Z. Jamjoom, Ibrahim A. Alorainy, Assim A. Alfadda, Rabih Halwani
Summary: Galloway-Mowat syndrome is a rare genetic disease characterized by renal and neurological symptoms, often leading to early death. This study identified a novel pathogenic gene variant in a Saudi Arabian consanguineous family and described its clinical features and underlying mechanisms.
FRONTIERS IN GENETICS
(2022)
Article
Medicine, Research & Experimental
Yue Wang, Xuejuan Chen, Tao Jiang, Yayun Gu, Xiaohan Zhang, Wenwen Yuan, Andi Zhao, Rui Li, Zijin Wang, Zhibin Hu, Hu Liu
Summary: Comitant strabismus (CS) is a heterogeneous disorder with a genetic component, with LRP2 identified as a novel candidate genetic cause. Whole-exome sequencing (WES) revealed heterozygous variants in LRP2 that completely co-segregated with the disease in the family studied, and a different novel heterozygous variant was detected in another unrelated family. These damaging variants were absent in ethnically matched normal controls.
JOURNAL OF TRANSLATIONAL MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Patricia Rodriguez-Solana, Natalia Arruti, Maria Nieves-Moreno, Rocio Mena, Carmen Rodriguez-Jimenez, Marta Guerrero-Carretero, Juan Carlos Acal, Joana Blasco, Jesus M. Peralta, Angela Del Pozo, Victoria E. F. Montano, Lucia De Dios-Blazquez, Celia Fernandez-Alcalde, Carmen Gonzalez-Atienza, Eloisa Sanchez-Cazorla, Maria de Los Angeles Gomez-Cano, Luna Delgado-Mora, Susana Noval, Elena Vallespin
Summary: This study conducted whole exome sequencing on 20 Spanish families with non-syndromic pediatric cataracts and identified potential gene candidates. Genetic diagnosis was achieved in 10% of the families and genes that could cause pediatric cataracts were found in 35% of the cohort. Furthermore, potential candidate genes and causal genes were proposed for further investigation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Katalin Komlosi, Olivier Claris, Sophie Collardeau-Frachon, Julia Kopp, Ingrid Hausser, Juliette Mazereeuw-Hautier, Nathalie Jonca, Andreas D. Zimmer, Damien Sanlaville, Judith Fischer
Summary: The cases highlight the phenotypic variability of glycosylation disorders, emphasizing the importance of broadening the differential diagnosis of ichthyosis and actively searching for organ involvement in neonates with ichthyosis. The report describes two neonatal cases of lethal ichthyosis from the same family, caused by compound heterozygous variants in the DOLK gene.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Ya Liu, Meihua Tan, Luhang Cai, Lihui Lv, Qingqing Chen, Wei Chen, Hang Yang, Yaping Xu
Summary: In this study, whole-exome sequencing was used to investigate the genetic causes of severe-profound hearing loss in Chinese Han children. Several novel genes and variants associated with hearing loss were identified, expanding our understanding of the heterogeneity of hereditary hearing loss.
Review
Biochemistry & Molecular Biology
Claudia Santoro, Giuseppe Mirone, Mariateresa Zanobio, Giusy Ranucci, Alessandra D'Amico, Domenico Cicala, Maria Iascone, Pia Bernardo, Vincenzo Piccolo, Andrea Ronchi, Giuseppe Limongelli, Marco Carotenuto, Vincenzo Nigro, Giuseppe Cinalli, Giulio Piluso
Summary: This study identified rare variants in the RNF213 gene that cause Moyamoya angiopathy (MMA) in European children. These variants lead to a syndromic form of early-onset, bilateral MMA with elevated aminotransferases and extracerebral vascular involvement, alongside distinctive skin manifestations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, General & Internal
Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R. Krawczynski
Summary: A study found that whole-exome sequencing (WES) can identify potential pathogenic gene variants in molecularly undiagnosed retinitis pigmentosa (RP) patients, even if previous targeted sequencing (NGS) was unable to determine the molecular etiology. By improving NGS methods and repeating high-throughput sequencing analysis, the efficiency of diagnosing RP patients has significantly increased. This study confirmed the clinical utility of re-diagnosis with WES in molecularly undiagnosed RP patients.
Article
Dentistry, Oral Surgery & Medicine
Ya Zhao, Yifei Hou, Jiabao Ren, Xuemei Gao, Lingqiang Meng, Ying Liu, Congcong Xing, Wenjing Shen
Summary: The study identified a novel WNT10A variant that causes non-syndromic oligodontia (NSO) in Chinese families. The findings expand the variation spectrum of WNT10A and provide valuable information for genetic counseling of families.
ARCHIVES OF ORAL BIOLOGY
(2023)
Article
Genetics & Heredity
Maxime Cadieux-Dion, Emily Farrow, Isabelle Thiffault, Ana S. A. Cohen, Holly Welsh, Lauren Bartik, Caitlin Schwager, Kendra Engleman, Dihong Zhou, Lei Zhang, Elena Repnikova, Shivarajan M. Amudhavalli, Carol J. Saunders
Summary: Loss of function variants in JARID2 are associated with neurodevelopmental disorders characterized by delays, intellectual and learning disability, autism, behavioral abnormalities, and dysmorphic features. This study confirms the gene-disease association and identifies palatal abnormalities and heart defects as part of the phenotype. The study also highlights the variable expressivity of the disease and the importance of exon-level analysis.
Article
Allergy
Maliwan Tengsujaritkul, Narissara Suratannon, Chupong Ittiwut, Rungnapa Ittiwut, Pantipa Chatchatee, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Summary: The diagnostic yield of WES in this patient cohort was 50%, with six novel genetic variants in IEI genes identified. The clinical usefulness of WES in IEI was demonstrated, emphasizing it as an effective diagnostic strategy in these genetically heterogeneous disorders.
PEDIATRIC ALLERGY AND IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Rui Dong, Xuxia Wei, Kaihui Zhang, Fengling Song, Yuqiang Lv, Min Gao, Dong Wang, Jian Ma, Zhongtao Gai, Yi Liu
Summary: This study aimed to explore the variation spectrum of glycogen storage diseases (GSDs) and found a correlation between gene mutations and disease types. By combining gene sequencing with clinical, biochemical, and pathological characteristics, accurate diagnosis and subtyping of GSD and related diseases can be achieved.
FRONTIERS IN GENETICS
(2022)
Review
Genetics & Heredity
Samantha S. Saenz, Benjamin Arias, Kazuyoshi Hosomichi, Vanessa I. Romero
Summary: The study identified two brothers clinically diagnosed with Carpenter syndrome, but whole exome sequencing analysis revealed a novel pathological variation, leading to a completely different diagnosis for them.
Article
Physiology
Noor Ahmad Shaik, Najla Al-Shehri, Mohammad Athar, Ahmed Awan, Mariam Khalili, Hadiah Bassam Al Mahadi, Gehan Hejazy, Omar I. I. Saadah, Sameer Eida Al-Harthi, Ramu Elango, Babajan Banaganapalli, Eman Alefishat, Zuhier Awan
Summary: By using whole exome sequencing (WES) and bioinformatic analysis, this study identified a rare heterozygous gain-of-function variant (R496W) in the PCSK9 gene as a causal factor for familial hypercholesterolemia (FH) in a Saudi family. This variant was not found in healthy relatives or normolipidemic controls. The computational analysis suggested that this variant could destabilize the native PCSK9 protein and affect its structural features and ligand-binding ability.
FRONTIERS IN PHYSIOLOGY
(2023)
Article
Genetics & Heredity
Hosneara Akter, Mohammad Shahnoor Hossain, Nushrat Jahan Dity, Md. Atikur Rahaman, K. M. Furkan Uddin, Nasna Nassir, Ghausia Begum, Reem Abdel Hameid, Muhammad Sougatul Islam, Tahrima Arman Tusty, Mohammad Basiruzzaman, Shaoli Sarkar, Mazharul Islam, Sharmin Jahan, Elaine T. Lim, Marc Woodbury-Smith, Dimitri James Stavropoulos, Darren D. O'Rielly, Bakhrom K. Berdeiv, A. H. M. Nurun Nabi, Mohammed Nazmul Ahsan, Stephen W. Scherer, Mohammed Uddin
Summary: Rare genetic diseases affect a significant number of individuals worldwide, and whole-exome sequencing in this study identified pathogenic variants in five children from Bangladesh. Variants in disease-associated genes were found, adding to the genetic heterogeneity of rare genetic diseases. The study provides insights into the genetic profile of rare genetic diseases in the Bangladesh population.
NPJ GENOMIC MEDICINE
(2021)
Article
Information Science & Library Science
Pengzhen Yin, Chuang Wang, Liang Liang
Summary: This study examines the antecedents (i.e. characteristics of MICT) and outcomes (i.e. employee affective and cognitive well-being) of routine MICT use in the remote work context. The findings show that routine MICT use increases employee affective well-being, such as job satisfaction, and mitigates cognitive well-being issues, such as technology overload. The study also highlights the mediation effects of routine MICT use on the relationship between its characteristics and employee well-being.
INFORMATION TECHNOLOGY & PEOPLE
(2023)
Article
Chemistry, Physical
Zengqi Lu, Xiaolong Fu, Jiamao Li, Jingwei Hou, Guangming Ran, Chengjian Xiao, Xiaolin Wang
Summary: A hydrophobic microscopic reaction environment was constructed through the modification of mesoporous silica, which helped improve the catalytic activity of the LPCE reaction. The Pt@SBA-15-tetramethyldisilazane catalyst, prepared by modifying the SBA-15 carrier and loading metal Pt, exhibited a superhydrophobic structure with a water contact angle of 158 degrees. This structure enhanced the catalytic performance and prevented catalyst deactivation. Experimental results showed that the catalyst had good catalytic activity in tritium water and maintained high activity after 30 days.
INTERNATIONAL JOURNAL OF HYDROGEN ENERGY
(2023)
Article
Agriculture, Multidisciplinary
Yuxiang Gu, Haoran Chen, Xing Li, Dan Li, Yue Sun, Lin Yang, Ying Ma, Eric Chun Yong Chan
Summary: This study found that Lactobacillus paracasei IMC 502 can prevent and alleviate type 2 diabetes by mediating the gut microbiota-SCFA-hormone/inflammation pathway.
JOURNAL OF THE SCIENCE OF FOOD AND AGRICULTURE
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Liyun Zheng, Chun Yang, Liang Liang, Shengxiang Rao, Yongming Dai, Mengsu Zeng
Summary: This study aimed to explore the feasibility of pancreatic imaging at 5 T and evaluate the practical improvement of T2-weighted MRI and diffusion-weighted imaging (DWI) at 5 T as compared with 3 T. The results showed that imaging at 5 T provided higher image quality ratings and SNR compared to 3 T for both T2-weighted and DWI images. However, there were no significant differences in the mean ADC values and CV of ADC between 3 T and 5 T measurements.
Article
Chemistry, Organic
Mao-Lin Yang, Hao-Ran Chen, Long Zhao, Ming-Wu Ding
Summary: A new efficient synthesis method for the preparation of 6,12-dihydro-5H-quinazolino[3,2-a]quinazolin-5-ones has been developed. This method involves sequential Ugi/Staudinger/aza-Wittig/addition/nucleophilic acyl substitution reactions and provides a domino and effective strategy for the preparation of various substituted quinazolino[3,2-a]quinazolin-5-ones under mild reaction conditions.
SYNTHESIS-STUTTGART
(2023)
Article
Automation & Control Systems
Huiming Li, Hao Chen, Xiangke Wang
Summary: This paper investigates the problem of collision-free leader-follower formation generation and tracking of multiple fixed-wing unmanned aerial vehicles (UAVs). A novel control law based on physicomimetics approach is proposed to integrate formation generation, formation tracking, and collision avoidance. The artificial forces driven by control laws imitating physical forces are used to achieve desired collaborative behaviors and obstacle avoidance naturally. Speed constraints are also considered and modified using a saturation function. Numerical simulations and experiments are provided to verify the effectiveness of the proposed control scheme.
ASIAN JOURNAL OF CONTROL
(2023)
Article
Engineering, Environmental
Long Liang, Chunmin Zhang, Shaolei Zhao, Baozhong Liu, Limin Wang, Fei Liang
Summary: Designing efficient catalysts is a crucial challenge for practical applications of high-capacity hydride in fuel-cell-based hydrogen economy. In this study, platinum-functionalized Ti3C2 material with an accordion-like structure, interlayer, and surface-dispersed nanoparticles was synthesized. The catalyst, Ti3C2@Pt, reduced the initial dehydrogenation temperature of high-density hydride AlH3 by 50% to 62 °C, comparable to commercial AlH3. Moreover, it exhibited high hydrogen supplying performance and retention ratio, achieving 9.3 wt% and 98% respectively, surpassing previously reported catalysts. The exceptional dehydrogenation performance of the material makes it a practical candidate for mobile device applications with the aid of high-efficiency catalysts.
CHEMICAL ENGINEERING JOURNAL
(2023)
Article
Engineering, Environmental
Qiang Liu, Youjin Gong, Boyu Liu, Shunshun Xiong, Hui-Min Wen, Xiaolin Wang
Summary: In this study, an ultra-microporous alkyl Cu-based MOF-11 was developed for highly selective adsorption of xenon. The unique pore system of MOF-11 not only enables strong binding affinity with xenon, but also allows for dense packing of xenon molecules. MOF-11 demonstrates record-high xenon storage density, uptake, and selectivity, making it a promising candidate for xenon separation and capture.
CHEMICAL ENGINEERING JOURNAL
(2023)
Article
Rheumatology
Haoran Chen, Huarui Liu, Wenting Lyu, Yin Liu, Mei Huang, Yingwei Zhang, Yuying Qiu, Yonglong Xiao, Hourong Cai, Jinghong Dai
Summary: This study retrospectively analyzed the clinical characteristics and risk factors of clinical recurrence in interstitial lung disease related to antisynthetase syndrome (ARS-ILD). Recurrence of ARS-ILD was common during medication intensity reduction, and age, lactate dehydrogenase (LDH), medication tapering duration, and discontinuation were identified as risk factors for recurrence.
CLINICAL RHEUMATOLOGY
(2023)
Article
Automation & Control Systems
Yuanmao Ye, Yongbin Zhang, Xiaolin Wang, Ka-Wai Eric Cheng
Summary: This article presents a new type of step-up multilevel inverter (MLI) using a front-side quasi-Z-source unit, which effectively limits the charging current variation and enhances the total voltage gain.
IEEE TRANSACTIONS ON INDUSTRIAL ELECTRONICS
(2023)
Article
Engineering, Electrical & Electronic
Yuanmao Ye, Minhao Chen, Xiaolin Wang, Lingling Cao
Summary: This article introduces a new boost-type common-ground photovoltaic (PV) inverter, which solves the problems of inrush charging current, input current quality, and boost capability by inserting a quasi-Z-source (qZS) unit into an SC-based common-ground inverter, and is experimentally verified.
INTERNATIONAL JOURNAL OF ELECTRICAL POWER & ENERGY SYSTEMS
(2023)
Article
Urology & Nephrology
Vanessa Krausel, Lisanne Pund, Harald Nuesse, Hussein Bachir, Andrea Ricker, Jurgen Klingauf, Thomas Weide, Hermann Pavenstaedt, Michael P. Krahn, Daniela A. Braun
Summary: Mutations in OSGEP and four other genes that encode subunits of the KEOPS complex cause Galloway-Mowat syndrome, a severe, inherited kidney-neurological disease. Here, the researchers investigated the molecular pathogenic mechanisms of KEOPS-related glomerular disease and found that ATF4-mediated signaling is a molecular link among ER stress, slit diaphragm defects, and podocyte injury. Modulation of ATF4 signaling may be a potential therapeutic target for certain podocyte diseases.
KIDNEY INTERNATIONAL
(2023)
Article
Toxicology
Charlotte A. Hoogstraten, Maaike M. E. Jacobs, Guido de Boer, Melissa A. E. van de Wal, Werner J. H. Koopman, Jan A. M. Smeitink, Frans G. M. Russel, Tom J. J. Schirris
Summary: Mitochondrial dysfunction plays a pivotal role in drug-induced acute kidney injury (AKI) and the transport protein AAC is an important potential drug off-target. In this study, AAC3 deficiency led to reduced mitochondrial function and mass in human renal proximal tubular cells, particularly affecting metabolic spare capacity under galactose conditions.
ARCHIVES OF TOXICOLOGY
(2023)
Article
Genetics & Heredity
Amar J. Majmundar, Eugen Widmeier, John F. Heneghan, Ankana Daga, Chen-Han Wilfred Majmundar, Florian Buerger, Hannah Heneghan, Ihsan Ullah, Ali Amar, Isabel Ottlewski, Daniela A. Braun, Tilman Jobst-Schwan, Jennifer A. Lawson, Muhammad Yasir Zahoor, Nancy M. Rodig, Velibor Tasic, Caleb P. Nelson, Shagufta Khaliq, Ria Schoenauer, Jan Halbritter, John A. Sayer, Hanan M. Fathy, Michelle A. Baum, Shirlee Shril, Shrikant Mane, Seth L. Alper, Friedhelm Hildebrandt
Summary: Rare, dominant loss-of-function OXGR1 variants are associated with recurrent calcium oxalate nephrolithiasis and nephrocalcinosis. OXGR1 encodes alpha-ketoglutarate (AKG) receptor 1 in the distal nephron and plays a crucial role in calcium transport. The study provides evidence for the involvement of OXGR1 in the pathogenesis of NL/NC.
GENETICS IN MEDICINE
(2023)